995 resultados para SED-BDS


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Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.

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Magdeburg, Univ., Fak. für Geistes-, Sozial- und Erziehungswiss., Habil.-Schr., 2010

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L’objectiu principal del treball és exposar una alternativa a la institucionalització que fomenti l’autonomia, el desenvolupament i el benestar de les persones que es troben en situació de dependència, partint d’un recurs ja existent: el Servei d’Atenció Domiciliària (SAD). Va dirigit en especial al col•lectiu de persones amb problemàtiques de salut mental. Proposa la nomenclatura SED (Suport Educatiu Domiciliari) què no existeix com a tal, per anomenar una branca o una part del SAD que sí existeix

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Offprint from: Allgemeine Geographische Ephemeriden ; XVI. Bds., Zweites Stück, Februar 1805.

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Offprint from: Allgemeine geographische Ephemeriden ; IX. Bds., Sechtes Stück, Junius 1802.

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Offprint from: Allgemeine Geographische Ephemeriden ; X. Bds., Zweytes Stück, August 1802.